(Q37547480)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

title

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

8

1 reference

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24 March 2020

Michael Simpson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

Zofia M Chrzanowska-Lightowlers

24 March 2020

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Robert McFarland

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Robert William Taylor

18

object named as

Robert W Taylor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

13

Robert N Lightowlers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

3

Steven A Hardy

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

1

Monika Oláhová

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Maria-Eleni Anagnostou

6

object named as

Maria-Eleni Anagnostou

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

16

Charu Deshpande

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

4

Inês A Barbosa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

17

Penelope E Bonnen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

5

Arnaud Besse

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

12

Susan Schelley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

author name string

Kyle Thompson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Kathryn White

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Michael Champion

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

Greg Enns

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

publication date

30 September 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

24 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

volume

40

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

page(s)

121-130

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

24 March 2020

copyright license

start time

30 September 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC5203855/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

exact match

https://scigraph.springernature.com/pub.10.1007/s10545-016-9977-2

0 references

cites work

OPA1 processing in cell death and disease - the long and short of it

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Spectrum of combined respiratory chain defects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Loss of HtrA2/Omi activity in non-neuronal tissues of adult mice causes premature aging

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

De novo mutations in MLL cause Wiedemann-Steiner syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Modulation of mitochondrial function and morphology by interaction of Omi/HtrA2 with the mitochondrial fusion factor OPA1.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Mitochondrial 'kiss-and-run': interplay between mitochondrial motility and fusion-fission dynamics

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

The mitochondrial serine protease HtrA2/Omi: an overview

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

OPA1 controls apoptotic cristae remodeling independently from mitochondrial fusion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Identification of Omi/HtrA2 as a mitochondrial apoptotic serine protease that disrupts inhibitor of apoptosis protein-caspase interaction

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

The serine protease Omi/HtrA2 regulates apoptosis by binding XIAP through a reaper-like motif

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

A serine protease, HtrA2, is released from the mitochondria and interacts with XIAP, inducing cell death

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

X-linked dilated cardiomyopathy with neutropenia, growth retardation, and 3-methylglutaconic aciduria

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

New roles for mitochondrial proteases in health, ageing and disease

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Deficiency of HTRA2/Omi is associated with infantile neurodegeneration and 3-methylglutaconic aciduria.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

HTRA2 p.G399S in Parkinson disease, essential tremor, and tremulous cervical dystonia

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5203855

Erratum to: TMEM70 deficiency: long-term outcome of 48 patients

1 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10545-016-9977-2

A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27696117

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-016-9977-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27696117%20AND%20SRC:MED&resulttype=core&format=json

24 March 2020

1 reference